ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance by Blueprint Genetics,

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Total variants: 18
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HGVS dbSNP
NM_001103.3(ACTN2):c.1057C>T (p.Arg353Trp) rs1150181
NM_001103.3(ACTN2):c.1070G>A (p.Arg357His) rs730880041
NM_001103.3(ACTN2):c.1180C>T (p.Arg394Trp) rs559395092
NM_001103.3(ACTN2):c.1216T>G (p.Phe406Val)
NM_001103.3(ACTN2):c.1745T>C (p.Val582Ala)
NM_001103.3(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842
NM_001103.3(ACTN2):c.193G>A (p.Asp65Asn)
NM_001103.3(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739
NM_001103.3(ACTN2):c.2336G>A (p.Arg779Lys)
NM_001103.3(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.3(ACTN2):c.2416C>T (p.Gln806Ter) rs772733279
NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335
NM_001103.3(ACTN2):c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT (p.Pro856fs) rs1553305275
NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) rs777124854
NM_001103.3(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.3(ACTN2):c.698-1179G>A
NM_001103.3(ACTN2):c.82C>T (p.Arg28Cys) rs730880040
NM_001103.3(ACTN2):c.902T>A (p.Ile301Asn)

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